Molecular Genetic Analysis of Ovarian Brenner Tumors and Associated Mucinous Epithelial Neoplasms: High Variant Concordance and Identification of Mutually Exclusive RAS Driver Mutations and MYC Amplification

The American Journal of Pathology
Laura J TafeSusan M Mockus

Abstract

Benign ovarian Brenner tumors often are associated with mucinous cystic neoplasms, which are hypothesized to share a histogenic origin and progression, however, supporting molecular characterization is limited. Our goal was to identify molecular mechanisms linking these tumors. DNA from six Brenner tumors with paired mucinous tumors, two Brenner tumors not associated with a mucinous neoplasm, and two atypical proliferative (borderline) Brenner tumors was extracted from formalin-fixed, paraffin-embedded tumor samples and sequenced using a 358-gene next-generation sequencing assay. Variant calls were compared within tumor groups to assess somatic mutation profiles. There was high concordance of the variants between paired samples (40% to 75%; P < 0.0001). Four of the six tumor pairs showed KRAS hotspot driver mutations specifically in the mucinous tumor. In the two paired samples that lacked KRAS mutations, MYC amplification was detected in both of the mucinous and the Brenner components; MYC amplification also was detected in a third Brenner tumor. Five of the Brenner tumors had no reportable potential driver alterations. The two atypical proliferative (borderline) Brenner tumors both had RAS mutations. The high degree of coordi...Continue Reading

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May 2, 2017·Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine·Padmanaban S SureshAbhishek Shetty
Nov 2, 2016·International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists·Jeffrey D Seidman, Jayashree Krishnan
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Nov 7, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Michiel SimonsRobert J Kurman
Apr 24, 2020·American Journal of Clinical Pathology·Lucy WangPratibha Sharma Shukla
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Apr 26, 2020·Annales de pathologie·Sandrine Moret, Pierre-Alexandre Just
Aug 11, 2021·Surgical Pathology Clinics·Zehra OrduluLauren L Ritterhouse

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